Submissions for variant NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=)

dbSNP: rs139421676

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127607	SCV000171185	benign	not specified	2013-10-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000291960	SCV000561676	likely benign	Epilepsy, progressive myoclonic, 1B	2023-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316399	SCV000849872	likely benign	Inborn genetic diseases	2017-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc	RCV000127607	SCV001475418	benign	not specified	2020-06-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003326353	SCV004033199	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	PRICKLE1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003945138	SCV004762799	likely benign	PRICKLE1-related condition	2023-01-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).